Implications for the patient and family
As for all complex genomic tests, in addition to the informational aspect of consent it is crucial that healthcare professionals elicit and explore the patient’s expectations surrounding WGS, as well as ensure that all family members present are included in discussions to facilitate informed decision-making. Important issues to address include how patients may react and adapt to possible results, how results may or may not affect treatment decisions, and acknowledging the uncertainties inherent to WGS. In addition, there are a number of factors that can influence an individual’s choice to have a genomic test, including their wider physical and mental health history; cultural, religious, familial and personal values; the impact of the disease on the individual or family; and the timing of the consent conversation, for example if the patient has just received a clinical diagnosis or is in the midst of other procedures or treatment.
Further resources and information that can be useful for patient are listed in the Further information section below.
Family planning and reproductive choices
If a diagnosis for an individual’s rare disease or inherited predisposition to cancer is found through WGS, the patient and their relatives may have access to family planning options. Pre-implantation genetic diagnosis (PGD) uses in-vitro fertilization procedures and tests available embryos for the condition in the family prior to implantation. Prenatal testing can include chorionic villus sampling, amniocentesis or non-invasive prenatal diagnosis to determine if a pregnancy has inherited the variant(s) causing the condition in the family. Importantly, patients may not wish to pursue any testing, but all should be offered a referral for genetic counselling to further discuss their options.
Sharing results with relatives
If a pathogenic variant is found to cause a patient’s rare disease or predisposition to cancer, certain blood relatives such as parents, siblings or children can inherit the same variant and develop, or have an increased risk to develop, the same condition. It is therefore important to have a discussion with patients, both prior to and following testing, regarding the importance of discussing their results with relatives. This can enable relatives to access preventative screening, genetic counselling, predictive genetic testing and information about reproductive choices.
Resources such as a ‘To whom it may concern’ letter outlining the condition and variant can be helpful to assist with the communication process of family members learning about their risk and accessing a referral for testing. As receiving a ‘To whom it may concern letter’ can cause distress, patients should be encouraged to accompany such a letter with a personalized cover note or to have a conversation with their relatives in addition to sharing this letter. Further support (such as genetic counselling) can be sought prior to testing if concerns arise regarding facilitating communication with family members.